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M\'e9ndez-Vidal C, Bravo-Gil N, Perez-Florido J, et al. A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice. J Transl Med. 2025;23(1):86. doi:10.1186/s12967-025-06069-2.\par \par Garrido-Rodriguez M, L\'f3pez-L\'f3pez D, Ortuno FM, et al. A versatile workflow to integrate RNA-seq genomic and transcriptomic data into mechanistic models of signaling pathways. PLoS Comput Biol. 2021;17(2):e1008748. doi:10.1371/journal.pcbi.1008748.\par \par Salgado D, Armean IM, Baudis M, et al. The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research. F1000Res. 2020;9. doi:10.12688/f1000research.24887.1.\par \par L\'f3pez-L\'f3pez D, Loucera C, Carmona R, et al. SMN1 copy-number and sequence variant analysis from next-generation sequencing data. Hum Mutat. 2020;41(12):2073-2077. doi:10.1002/humu.24120.\par \par Gonzalez S, Clavijo B, Rivarola M, et al. ATGC transcriptomics: a web-based application to integrate, explore and analyze de novo transcriptomic data. BMC Bioinformatics. 2017;18(1):121. doi:10.1186/s12859-017-1494-2.\par \par Juanes JM, Gallego A, T\'e1rraga J, et al. VISMapper: ultra-fast exhaustive cartography of viral insertion sites for gene therapy. BMC Bioinformatics. 2017;18(1):421. doi:10.1186/s12859-017-1837-z.\par \par Bravo-Gil N, M\'e9ndez-Vidal C, Romero-P\'e9rez L, et al. Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. Sci Rep. 2016;6:23910. doi:10.1038/srep23910.\par \par Garcia-Garcia F, Panadero J, Dopazo J, Montaner D. Integrated gene set analysis for microRNA studies. Bioinformatics. 2016;32(18):2809-16. doi:10.1093/bioinformatics/btw334.\par \par Urreizti R, Roca-Ayats N, Trepat J, et al. Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. Am J Med Genet A. 2016;170A(1):24-31. doi:10.1002/ajmg.a.37418.\par \par Lucariello M, Vidal E, Vidal S, et al. Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype. Hum Genet. 2016;135(12):1343-1354. doi:10.1007/s00439-016-1721-3.\par \par Salavert J, Tom\'e1s A, T\'e1rraga J, Medina I, Dopazo J, Blanquer I. Fast inexact mapping using advanced tree exploration on backward search methods. BMC Bioinformatics. 2015;16:18. doi:10.1186/s12859-014-0438-3.\par \par Avila-Fernandez A, Perez-Carro R, Corton M, et al. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. Hum Mol Genet. 2015;24(14):4037-48. doi:10.1093/hmg/ddv140.\par \par L\'f3pez-Domingo FJ, Florido JP, Rueda A, Dopazo J, Santoyo-L\'f3pez J. ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing. Bioinformatics. 2014;30(12):1767-8. doi:10.1093/bioinformatics/btu108.\par \par Tort F, Garc\'eda-Silva MTeresa, Ferrer-Cort\'e8s X, et al. Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. Mol Genet Metab. 2013;110(1-2):73-7. doi:10.1016/j.ymgme.2013.04.021.\par \par Medina I, De Maria A, Bleda M, et al. VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing. Nucleic Acids Res. 2012;40(Web Server issue):W54-8. doi:10.1093/nar/gks572.\par \par Heyn H, Vidal E, Sayols S, et al. Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient. Epigenetics. 2012;7(6):542-50. doi:10.4161/epi.20523.\par \par }